Results 71 to 80 of about 648,932 (289)

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

Molecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim, Sungwoo Bae, Jaeyong Choi, Sun‐Wha Im, Bukyoung Cha, Gyeongseo Jung, Sun Wook Cho, Eul‐Ju Seo, Young Ah Lee, Jin Chul Paeng, Young Joo Park, Jong‐Il Kim   +11 more
wiley   +1 more source

The c.-1639g>A polymorphism of the VKORC1 gene and his influence on the therapeutic response during oral anticoagulants use [PDF]

Vojnosanitetski Pregled, 2009
Background/Aim. A single nucleotide polymorphism c.- 1639G>A in the promoter region of vitamin K-epoxide reductase (VKORC1) gene has been found to account for most of the variability in response to oral anticoagulants (OA). The aim of the study was to
Kovač Mirjana, Rakićević Ljiljana, Maslać Aleksandar, Radojković Dragica   +3 more
doaj   +1 more source

Allelic heterogeneity and trade-off shape natural variation for response to soil micronutrient [PDF]

, 2012
Peer reviewedPublisher ...
Andreatta, Matthew, Loudet, Olivier, Poormohammad Kiani, Seifollah, Robert, Thierry, Salt, David E, Simon, Matthieu, Trontin, Charlotte   +6 more
core   +5 more sources

The genetic determinants of the CYP3A5 polymorphism

Pharmacogenetics, 2001
CYP3A proteins comprise a significant portion of the hepatic cytochrome P450 (CYP) protein and they metabolize around 50% of drugs currently in use. The dissection of the individual contributions of the four CYP3A genes identified in humans to overall hepatic CYP3A activity has been hampered by sequence and functional similarities. We have investigated
Hustert, E., Haberl, M., Burk, O., Wolbold, R., He, Y. Q., Klein, K., Nuessler, A. C., Neuhaus, P., Klattig, J., Eiselt, R., Koch, I., Zibat, Arne, Brockmoeller, Juergen, Halpert, J. R., Zanger, Ulrich M., Wojnowski, Leszek   +15 more
openaire   +3 more sources

Comprehensive profiling of lncRNAs and mRNAs enriched in small extracellular vesicles for early noninvasive detection of colorectal cancer: diagnostic panel assembly and extensive validation

Molecular Oncology, EarlyView.
Small extracellular vesicles are a promising source of diagnostic molecules. We conducted a comprehensive study, including transcriptome profiling and RT‐qPCR validation on large cohorts of samples. Diagnostic panels enabling sensitive detection of colorectal cancer and precancerous lesions were established. Some molecules were differentially expressed
Petra Vychytilova‐Faltejskova, Marketa Pavlikova, Lucie Pifkova, Robin Jugas, Tana Machackova, Lenka Radova, Milana Sachlova, Renata Bartosova, Tetiana Samoilenko, Zuzana Feckova, Jana Orlickova, Erika Slamova, Elleni Ponechal Michu, Dagmar Al Tukmachi, Michaela Ruckova, Martina Vodinska, Jan Kotoucek, Tina Catela Ivkovic, Marie Boudna, Lucia Bohovicova, Teodor Stanek, Jana Halamkova, Martin Svoboda, Vladimir Prochazka, Tomas Grolich, Zdenek Kala, Ondrej Slaby   +26 more
wiley   +1 more source

Inverse correlation of population similarity and introduction date for invasive ascidians. [PDF]

PLoS ONE, 2008
The genomes of many marine invertebrates, including the purple sea urchin and the solitary ascidians Ciona intestinalis and Ciona savignyi, show exceptionally high levels of heterozygosity, implying that these populations are highly polymorphic. Analysis
Nathan Silva, William C Smith
doaj   +1 more source

The influence of ROS1 fusion partners and resistance mechanisms in ROS1‐TKI‐treated non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
This real‐world study of ROS1+ NSCLC highlights fusion diversity, treatment outcomes with crizotinib and lorlatinib, and in vitro experiments with resistance mechanisms. G2032R drives strong resistance to ROS1‐targeted TKIs, especially lorlatinib. Fusion partner location does not affect overall survival to crizotinib or lorlatinib. Findings support the
Fenneke Zwierenga, Christa Dijkhuizen, Patrick Korthuis, Wim Timens, Harry Groen, Jeroen Hiltermann, Anke van den Berg, Lyndsay Drayer, Anthonie van der Wekken   +8 more
wiley   +1 more source

Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña

Biomédica: revista del Instituto Nacional de Salud, 2012
Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, conun fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los
Ana Victoria Valencia, Ana Lucía Páez, María Elena Sampedro, Clara Ávila, Julio Cesar Cardona, Catalina Mesa, Lina Galvis, Jaime Carrizosa, Mauricio Camargo, Andrés Ruíz, William Cornejo, Gabriel Bedoya   +11 more
doaj   +1 more source

XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium. [PDF]

, 2010
PurposeEpidemiological evidence suggests that UV irradiation plays an important role in pterygium pathogenesis. UV irradiation can produce a wide range of DNA damage.
Chen, Pei-Liang, Cheng, Ya-Wen, Koeh, Hank, Lee, Huei, Liu, Yu-Ling, Tsai, Yi-Yu, Yeh, Kun-Tu   +6 more
core   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source